NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)
|
rs778748895
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
0.00001
|
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NC_000007.14:g.117664688_117667108del
|
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)
|
rs2151187381
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3587del (p.Ser1196fs)
|
rs367543018
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)
|
rs1595382501
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)
|
rs1591287317
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.6439-1G>A
|
rs1591514873
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000281.4(PCBD1):c.272del (p.Asn91fs)
|
rs1589483932
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
|
|
|
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
|
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)
|
rs1307944675
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
NM_000492.4(CFTR):c.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.869+1G>T
|
rs1330431481
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.337del (p.Gln113fs)
|
rs1553129638
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001139.3(ALOX12B):c.435-2A>G
|
rs1598181642
|
|
NM_001171.6(ABCC6):c.1609del (p.Val537fs)
|
rs1596678798
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)
|
rs756389027
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)
|
rs1434010689
|
|
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)
|
rs1572970628
|
|
NM_001384140.1(PCDH15):c.1441-1G>T
|
rs2133801703
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002617.4(PEX10):c.52G>C (p.Asp18His)
|
rs61750432
|
|
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)
|
rs1414973726
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu)
|
rs868951923
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)
|
rs1271250198
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs)
|
rs1572304438
|
|
NM_005687.5(FARSB):c.1408del (p.Leu470fs)
|
rs2106209945
|
|
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly)
|
rs2106230623
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter)
|
rs752777832
|
|
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)
|
rs199757347
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)
|
rs747266069
|
|
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter)
|
rs2144219508
|
|
NM_014028.4(OSTM1):c.486del (p.Phe162fs)
|
rs1582396088
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014780.5(CUL7):c.652del (p.Arg218fs)
|
rs1581962986
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser)
|
rs2141181367
|
|
NM_016194.4(GNB5):c.375+1G>T
|
rs886041055
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)
|
rs397514683
|
|
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)
|
rs1589079163
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)
|
rs1584934951
|
|
NM_020964.3(EPG5):c.1252+1G>T
|
rs763788808
|
|
NM_020964.3(EPG5):c.5870-2A>G
|
rs1599474108
|
|
NM_020964.3(EPG5):c.6577del (p.Val2193fs)
|
rs1599445663
|
|
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)
|
rs2145359858
|
|
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)
|
rs759141702
|
|
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)
|
rs887346658
|
|
NM_024057.4(NUP37):c.153_156+3del
|
rs770156086
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)
|
rs1597012997
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_144672.4(OTOA):c.1320+2T>C
|
rs1567381218
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_178172.6(GPIHBP1):c.182-1G>T
|
rs2130672651
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.702+1G>A
|
rs2128325966
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|